Tuesday, 27 December 2016

2016 autism research review on Questioning Answers

With around 300 blog entries to choose from, I'm changing the format this year to list a 'top 5' of areas where I think some scientific progress has been made. The caveat as ever being that there are still mountains to climb in terms of delineating aetiology, nature and importantly, how one can actually improve quality of life for those on the spectrum. At the foot of this post I've also detailed a few 'areas to watch' in the coming months/years too.

So, in no particular order, here goes:

1. Vitamin D and autism. As per my 'one to watch' prediction from the 2015 end-of-year review, there has been a veritable science feast focused on the sunshine vitamin/hormone in connection to autism (see here). The research discussions in 2016 started with some initial talk about 'clinical improvements' following supplementation with vitamin D (see here). This was accompanied by chatter about the possible use of pregnancy vitamin D affecting risk of offspring autism (see here and see here). Screening for vitamin D levels as and when a diagnosis of autism is received was also discussed (see here). Then, towards the end of the year, things got really interesting as one of the first controlled trials of vitamin D supplementation in autism was published (see here) with the promise of more to come (see here). The findings (double-blind, placebo-controlled) suggested that for some at least, vitamin D over placebo might have the ability to affect the presentation of some aspects of autism. The caveats? Well, larger controlled trials are required and one has to be careful about doses of vitamin D in light of some cautionary tales (see here). What else needs to be done on the topic of vitamin D and autism? Given the number of conditions the sunshine vitamin has been linked to - some labels potentially crossing over with autism - a wider view of any 'effects' outside of those just on core autism symptoms might be useful. This will probably also provide some more potentially information about the possible hows-and-whys of vitamin D action.

2. Autism as a plural condition. 'The autisms' is a phrase not unfamiliar to this blog (see here) but this year, a couple of papers really started putting some scientific flesh on to the bones of the argument for why we need to rethink autism. Discussions on the paper by Lynn Waterhouse and colleagues [1] (see here) set the tone for such a debate and how the label of autism serves a purpose in defining / describing symptoms but seemingly does little else when it comes to a research perspective looking at the hows-and-whys of autism. That autism seemingly appears alongside a long list of other conditions including quite a few of the various inborn errors of metabolism (see here and see here) substantiates the idea that a singular labels says very little about the 'essence' of autism. And speaking of ESSENCE (see here), there was yet more on this important topic. Another part of this 'pluralisation' debate is the fact that the 'autism is a lifelong condition' mantra rolled out again and again and again might not necessarily ring true for everyone who was once diagnosed on the autism spectrum (see here and see here). And to say that these children/adults were 'never autistic in the first place' does a real disservice to them, their parents and loved ones and the professionals who diagnosed them...

3. Meta-analysing autism. Mirroring what seems to be apparent in the research literature in general, a whole slew of meta-analyses and systematic reviews on the topic of autism emerged this year. We had reviews on long-term outcome and quality of life (see here), behavioural outcomes following exercise (see here), medication (see here and see here), joint intervention strategies (see here), pregnancy infection and offspring autism risk (see here) and allergic asthma and autism (see here) to name but a few. One of the particularly notable reviews of the collected data was that by Nevill and colleagues [2] on the topic of parent-mediated interventions for young children with autism. Covering a topic with more than a pinch of media hype this year (see here), the science behind the hype in this area actually turns out to be not that strong at the moment...

4. Real-world autism. Although I'm partial to reading quite a bit on the science about autism, one thing I hope I never forget is how that science translates into 'action' when it comes to autism, either in terms of 'hows-and-whys' or impacting on the day-to-day positives and negatives of living with the label. This year I've talked about more research on the topic of 'real world autism' covering various angles including: wandering and autism (see here), parents lived experience of offspring autism diagnosis and beyond (see here and see here), early mortality and autism (see here and see here), the so-called challenging behaviours (see here) and the employment stats (see here). Quite a few of these areas make for uncomfortable reading insofar as the widening gaps present between autism and not-autism. But just before anyone suggests that I'm somehow casting autism in shadow, many if not all of the issues raised in those posts are solvable. So for example, on challenging the idea that 'people with autism die younger' and in particular, tackling the heightened suicide risk seemingly present alongside autism, there are practical things that can be done (see here); not least appropriate screening for important comorbidities (see here) and managing accordingly. Yes, there are mountains to climb, but with a pair of sturdy 'research and clinical practice' walking boots, change is possible...

5. Immune function and autism. I've added this into my top 5 of scientific progress because the knowledge base around how the immune system may be linked to at least some 'types' of autism is increasing year on year. It's a huge topic in terms of both aspects covered and potential 'links' being made but a few choice areas include: 'autism genes' being linked to immune function (see here), immune-related conditions being over-represented in autism (see here) and some big names coming around to the idea of neuroinflammation and [some] autism (see here). In this section I'm also going to draw your attention to further evidence talking about infection 'correlating' with the onset of some autism (see here) and how important gut issues (that often have immune-related biochemistry linked in) associated with some autism have received some further welcome research attention (see here). On the basis of this and the wealth of other peer-reviewed research on this topic, it would be a brave person to say that the immune system has no link to at least some types of autism. Such research also opens up the possibility of alternative avenues for intervention too (see here and see here) (with no medical advice given or intended)...

So as you can see, it's been a busy research year again when it comes to the label of autism. Alongside some of the science covered I'd also draw your attention to some emerging ideas including the suggestion that autism genes are not just genes for autism (see here), the stats on the estimated numbers of people diagnosed with autism being still high (see here) and possibly still rising in some areas (see here) and the suggestion of a 'frank' presentation of autism (see here) as being put out there and what effects this might have on autism screening and diagnosis.

What next for autism research in 2017? Well I dunno. But I might speculate on a few things including: (a) the rise and rise of investigations into gut bacteria and autism (see here for one possible example) including research looking at potentially 'altering' gut bacterial profiles (see here), (b) more research looking at the DSM-5 catch-all category called SCD (see here) and what it means for autism as a whole, (c) CRISPR-Cas9 and autism research (carefully) continued (see here) (if patents and the like don't get in the way), (d) the development of the ICF core sets for autism continuing (see here) and (e) further investigations into conditions such as the connective tissue disorders in relation to autism (see here) bearing in mind how motor skills in relation to autism seems to be coming back into research fashion. On that last point also, and bearing in mind my other blogging interest in relation to the labels called chronic fatigue syndrome / myalgic encephalomyelitis (CFS/ME), I'm also wondering if it is time for someone, somewhere to think about looking at the prevalence of CFS/ME in autism or vice-versa? Provided that is, they can select the correct description of CFS/ME and can avoid any psychosomatic entanglements (see here)...

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Questioning Answers

About Me

I have been involved in autism research for more years than I care to remember. My Questioning Answers blog (http://questioning-answers.blogspot.com/) is a place to describe and discuss various research into autism spectrum and related conditions. My Gutness Gracious Me blog (http://gutness-gracious-me.blogspot.com/) is for discussions on various gastrointestinal research. I make no recommendations, I am not giving any medical advice, I am not formulating any specific opinions and do not want to get into any ethical, political or religious debates. I am not trying to change anyone's opinions, views, beliefs or anything else. These are purely blogs about science and research in autism and a few other interesting things. Any posts I make are my own opinions and not reflective of any organisation I am affiliated to. Keep in mind that science deals with probabilities not absolutes.

ABOUT AUTISM SPECTRUM CONDITIONS

Autism or autism spectrum conditions describe several presentations characterised by core issues with social affect and stereotyped or repetitive actions. Diagnosis is made by observation and analysis of developmental history. These are heterogeneous conditions which can carry various co-morbidities and whilst described as life-long are affected by age and maturation. Autism means different things to different people. To some it means a need for life-long support. To others it is part of the varied tapestry of humanity. To all it means a need to foster a welcoming society with appropriate support and opportunities.